Researchers awarded at the Annual Meeting of the Portuguese Society of Human Genetics

Researchers Celina São José and Daniel Ferreira were recognised by the Portuguese Society of Human Genetics (SPGH) with respective awards for best oral communication in the categories of basic research and clinical research. The works were presented at the 27th Annual Meeting of SPGH and both focus on Hereditary Diffuse Gastric Cancer (HDGC) syndrome.

The study presented by Celina São José was based on the analysis of families suspected of having HDGC, but with an unknown genetic cause, with the aim of identifying, in these cases, what could be at the origin of this hereditary disease. To this end, the researcher explored the complete genomes of 19 individuals with familial cases of HDGC syndrome and studied alternative genes to CDH1 and CTNNA1, which are already known to predispose to the development of stomach cancer in both sexes and breast cancer in women. She also studied genetic changes in regulatory regions that control the expression of the CDH1 gene and that potentially increase the risk of this disease.

Following this work, the researcher from the Expression Regulation in Cancer group, led by Carla Oliveira, managed to identify the “probable cause in three of the 19 families, one being a deletion in an alternative gene associated with cancer (MLH1) and the other two deletions of non-coding regions that regulate expression of the CDH1 gene”. Celina São José also found in 11 of the 19 families “recurrent changes, which coexist in genes associated with the immune system and which are thought to influence the development of the disease”.

This work, says the young researcher, “plays a very important role, as it helps to identify individuals at greater risk of developing cancer, guiding them towards more appropriate lines of prevention and surveillance”.

Creating a stomach-on-a-chip to improve prevention

For his part, Daniel Ferreira, rewarded in the clinical research category, presented the latest developments in his work on the creation of a stomach-on-a-chip, an in vitro model entirely derived from human cells, which replicates the molecular, physical and functional functions of the stomach.

Using pluripotent stem cells derived from the blood of individuals affected by CDH1 syndrome and carriers of variants in the CDH1 gene, whose stomachs were surgically removed to reduce the risk of cancer, Daniel Ferreira was able to recreate these stomachs on a chip. This organ mimicry strategy, explains the researcher, “allows us to reproduce, in vitro, the initial stages of the disease and identify early disease markers”. This work, he guarantees, “promises to be a unique contribution to improving the prevention of advanced disease and the health care provided to families with HDGC”.

Researcher Carla Oliveira, who assumed the presidency of the Portuguese Society of Human Genetics at this meeting, highlights that the attribution of these two awards to members of the research group she leads “confirms the quality of the work carried out in the group”. The hope, she adds, “is that the knowledge generated can have a positive impact on the lives of patients affected by Hereditary Diffuse Gastric Cancer syndrome”.

For Celina São José, the award reflects “the collaboration of a multidisciplinary and international team focused on solving the complex and multifaceted challenges that gastric cancer presents”. “We work every day with a multidisciplinary team, made up of geneticists, nurses and researchers who do their best for this project and this award represents the result of their dedication and effort”, adds Daniel Ferreira.